Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors

Abstract EN

Introduction.

Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively.

Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes.

Clinical Case.

A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor.

The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing.

Discussion and Conclusion.

The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30–40% of cases.

Only 20% of PGL are located in head and neck, of which only 1–3% will show elevated catecholamines.

Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation.

However, different phenotypes can be observed depending on such germline mutations.

Genetic testing is important in patients with PCPG since 31% will present a germline mutation.

In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered.

A multidisciplinary approach is mandatory for every patient presenting with PCPG.